Linked Data
ClinVar Variation Id:
341312
dbSNP Id:
rs61752254
ExAC:
22:32881102 C / T
gnomAD v2:
22-32881102-C-T
gnomAD v3:
22-32485115-C-T
gnomAD v4:
22-32485115-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32485115C>T , CM000684.2:g.32485115C>T | GRCh38 |
| NC_000022.10:g.32881102C>T , CM000684.1:g.32881102C>T | GRCh37 |
| NC_000022.9:g.31211102C>T | NCBI36 |
| NG_016001.1:g.15396C>T | |
| NG_016001.2:g.15396C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.693C>T MANE Select | ENSP00000266087.7:p.Ser231= | |
| ENST00000266087.11:c.693C>T | ENSP00000266087.7:p.Ser231= | |
| ENST00000397426.5:c.351C>T | ENSP00000380571.1:p.Ser117= | |
| ENST00000420700.5:c.*272C>T | ENSP00000406155.1:n.*272C>T | |
| ENST00000425028.5:c.*391C>T | ENSP00000395823.1:n.*391C>T | |
| ENST00000452138.3:c.456C>T | ENSP00000388547.2:p.Ser152= | |
| ENST00000492535.1:n.529C>T | ||
| NM_001033024.1:c.456C>T | NP_001028196.1:p.Ser152= | |
| NM_001257990.1:c.351C>T | NP_001244919.1:p.Ser117= | |
| NM_012179.3:c.693C>T | NP_036311.3:p.Ser231= | |
| XM_011530106.1:c.225C>T | XP_011528408.1:p.Ser75= | |
| XM_024452207.1:c.351C>T | XP_024307975.1:p.Ser117= | |
| NM_012179.4:c.693C>T MANE Select | NP_036311.3:p.Ser231= | |
| NM_001033024.2:c.456C>T | NP_001028196.1:p.Ser152= | |
| NM_001257990.2:c.351C>T | NP_001244919.1:p.Ser117= |